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Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
ORPHA:436174 · Disease · Disorder
HPO 表現型（共 24 項）
Very frequent (99-80%)(24)
- AchalasiaHP:0002571
- Bilateral sensorineural hearing impairmentHP:0008619
- CataractHP:0000518
- Cervical spinal canal stenosisHP:0008445
- Decreased response to growth hormone stimulation testHP:0000824
- Developmental cataractHP:0000519
- Fasting hypoglycemiaHP:0003162
- Genu valgumHP:0002857
- Hip dislocationHP:0002827
- Motor delayHP:0001270
- Narrow mouthHP:0000160
- Periarticular subcutaneous nodulesHP:0007470
- Peripheral neuropathyHP:0009830
- Prelingual sensorineural hearing impairmentHP:0000399
- Progressive sensorineural hearing impairmentHP:0000408
- Prominent foreheadHP:0011220
- ScoliosisHP:0002650
- Sensorineural hearing impairmentHP:0000407
- Short statureHP:0004322
- Skeletal dysplasiaHP:0002652
- Spinal canal stenosisHP:0003416
- Spondyloepiphyseal dysplasiaHP:0002655
- Thick eyebrowHP:0000574
- Thoracic kyphoscoliosisHP:0005659